ALPL

Gene Symbol:
ALPL
HGNC:438
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1p36.12
Filters:

Definitive classifications

AR
01/29/2025
Evaluated
07/02/2025
Submitted
ALPL-related autosomal recessive hypophosphatasia
AR
01/19/2021
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

ALPL was first reported in relation to* ALPL*-related autosomal recessive hypophosphatas... Read more

infantile hypophosphatasia
AR
06/02/2021
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

ALPL was reported in relation to autosomal recessive severe hypophosphatasia as early as 1988 (We... Read more

adult hypophosphatasia
AD
05/19/2021
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

ALPL has been described in association with autosomal dominant mild hypophosphatasia (Taillandier... Read more

childhood hypophosphatasia
AD
03/03/2021
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

ALPL was reported in relation to autosomal dominant moderate hypophosphatasia as early as 1962 (S... Read more

childhood hypophosphatasia
AR
01/21/2019
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

ALPL has been described in association with autosomal recessive moderate hypophosphatasia (Tailla... Read more

ALPL-related autosomal dominant hypophosphatasia
AD
05/19/2021
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

ALPL was reported in relation to ALPL-related autosomal dominant hypophosphatas... Read more

childhood hypophosphatasia
Submitted as: OMIM:241510
AR
04/07/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more

Strong classifications

adult hypophosphatasia
Submitted as: OMIM:146300
AD
10/08/2020
Evaluated
11/09/2020
Submitted
infantile hypophosphatasia
Submitted as: OMIM:241500
AR
12/08/2022
Evaluated
11/30/2023
Submitted
infantile hypophosphatasia
Submitted as: OMIM:241500
AR
10/08/2020
Evaluated
11/09/2020
Submitted
adult hypophosphatasia
Submitted as: OMIM:146300
AD
01/18/2022
Evaluated
11/30/2023
Submitted

Supportive classifications

odontohypophosphatasia
Submitted as: Orphanet:247685
AD
09/14/2021
Evaluated
09/14/2021
Submitted
adult hypophosphatasia
Submitted as: Orphanet:247676
AD
09/14/2021
Evaluated
09/14/2021
Submitted
childhood hypophosphatasia
Submitted as: Orphanet:247667
AD
09/14/2021
Evaluated
09/14/2021
Submitted
infantile hypophosphatasia
Submitted as: Orphanet:247651
AR
09/14/2021
Evaluated
09/14/2021
Submitted
perinatal lethal hypophosphatasia
Submitted as: Orphanet:247623
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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